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GTR Home > Conditions/Phenotypes > Neurodegeneration with ataxia and late-onset optic atrophy

Neurodegeneration with ataxia and late-onset optic atrophy

Summary

Neurodegeneration with ataxia and late-onset optic atrophy (NDAXOA) is an autosomal dominant disorder with somewhat variable manifestations. Most affected individuals present in mid-adulthood with slowly progressive cerebellar and gait ataxia, optic atrophy, and myopathy or myalgia. Some patients may have a childhood history of neurologic features, including limited extraocular movements. Additional features can include cardiomyopathy, psychiatric disturbances, and peripheral sensory impairment (summary by Taylor et al., 1996 and Courage et al., 2017). [from OMIM]

Available tests

15 tests are in the database for this condition.

Clinical tests (15 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMD1GG, FP, MC2DN1, NDAXOA, PGL5, PPGL5, SDH1, SDH2, SDHF, SDHA
    Summary: succinate dehydrogenase complex flavoprotein subunit A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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